Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Myotonic dystrophy facies
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Myotonic dystrophy facies
Dan Evans
Lindenwood University
Genetics
November 25, 2012
Introduction
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
... middle of paper ...
...tcome of the congenital form of myotonic dystrophy. Pediat. Neurol. 11: 208-213, 1994.
Tishkoff, S. A., Goldman, A., Calafell, F., Speed, W. C., Deinard, A. S., Bonne-Tamir, B., Kidd, J. R., Pakstis, A. J., Jenkins, T., Kidd, K. K. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am. J. Hum. Genet. 62: 1389-14`02, 1998.
Tokgozoglu, L. S., Ashizawa, T., Pacifico, A., Armstrong, R. M., Epstein, H. F., Zoghbi, W. A. Cardiac involvement in a large kindred with myotonic dystrophy: quantitative assessment and relation to size of CTG repeat expansion. JAMA 274: 813-819, 1995.
Turnpenny, P., Clark, C., Kelly, K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J. Med. Genet. 31: 300-305, 1994.
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
According to Li, O’Brien, Snyder, and Howard (2016), problematic internet use may lead to serious psychosocial dysfunction and has resulted in a proposed diagnostic criterion for the DSM-5 in order to assess the disorder. In the United States, 6% to 11% of internet users are problematic internet users. Researchers, in fact, compare problematic internet use to the assessed criteria for gambling and internet gaming disorder. They have also concluded that college-aged teens and young adults are at most risk due to the availability of internet access around them and the direct relationship between the internet and education. Symptoms include impaired physical health such as obesity or sleep disorders, psychological distress, and behavioral problems. Students may also experience more interpersonal problems and worse school and work performance.
Basically, serotonin levels will provide various benefits regarded to health and mental. It is also called feel good chemical which will apply benefits to both biological and psychological functions. Most of this supplement’s application is found primarily in digestive tract and blood plates. Only small amount of this supplement will be served for its purpose in central nervous systems and brains. If users says that they are in way to achieve serotonin levels, then it is clearly understood that the small percentage will exists in the brain. It is capable of delivering various benefits regarding to mental function and maintenance of serotonin levels of the brain. The neurotransmitter has various things to do
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
“Myotonic Dystrophy.” Human Diseases and Conditions. Ed. Neil Izenberg. Vol. 2. New York: Charles Scribner’s Sons, 2000.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
 Mild, chronic depression has probably existed as long as the human condition, although it has been referred to by various different names. The DSM-III replaced the term “neurotic depression” with dysthymic disorder--which literally means ‘ill-humored’-and it was added to the Diagnostic and Statistical Manual of Mental Disorders, 1980
Horn, J. L., & Cattell, R. B. (1967). ‘Age differences in fluid and crystallized intelligence’. Acta Psychological, 26, 107-129.
This week I thought I would write a little bit about the origin of TwitchyNinja as my online persona. This story goes way back, so buckle up for a long ride. I’ll try to keep it short and this may end up being a two part story just for the sake of not boring you guys to death. Now, without further ado let us jump right in.
Jarry J., et al. "A Novel Autosomal Recessive Limb-Girdle Muscular Dystrophy with Quadriceps Atrophy Maps to 11p13-p12." Brain 130 (2007): 368-380.
Depression is general apathy towards daily activities and towards oneself. This disorder can cause a feeling of sadness and hopelessness. Activities that once brought happiness loses meaning. A person may overeat or oversleep or under eat and under sleep. This disorder is disruptive enough to be debilitating. Dysthymia is erratic while major depressive disorder is chronic. Depressive disorder is more commonly found in woman than in men, and elders and teenagers are more susceptible.